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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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基因编辑小鼠
Nr3c1
tm1.2Jea
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基础信息
表型特征
文献报道
在exon 2上游插入了loxP_2272位点,接着是带有FRT标签的新突变体 cassette,包括一个loxP位点、反向突变的exon 2(有两个丝氨酸替换为阿尔法氨基酸,S152A和S284A),再是另一个loxP_2272位点和一个loxP位点。通过Flp酶介导的重组移除了新突变体 cassette。随后,Cre介导的重组去除了野生型的exon 2,并将突变的exon 2翻转到正确方向。这个等位基因在exon 2中缺失了BDNF依赖的GR磷酸化位点。(来源:J:277414)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
6356400
C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
2
2
Phenotypes
Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes
References Literature
Title
PMID
Journal
Year
IF
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